ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830235819
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
202847
ClinVar RCV Id:
RCV000184805
RCV000643177
RCV001197045
RCV001704918
RCV002336483
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_597681.4:p.Arg15562Cys
CA310469
NM_133437.4:c.46684C>T